Incidental Mutation 'R4243:Mettl23'
| ID |
320313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl23
|
| Ensembl Gene |
ENSMUSG00000090266 |
| Gene Name |
methyltransferase like 23 |
| Synonyms |
4933424L15Rik, 1110005A03Rik, 1500035B17Rik |
| MMRRC Submission |
041643-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
R4243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116734341-116740566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116739126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 72
(V72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047616]
[ENSMUST00000092404]
[ENSMUST00000106370]
[ENSMUST00000136914]
[ENSMUST00000190993]
[ENSMUST00000139954]
[ENSMUST00000142495]
[ENSMUST00000143184]
|
| AlphaFold |
A2AA28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047616
|
| SMART Domains |
Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
305 |
6.09e-48 |
SMART |
|
low complexity region
|
340 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092404
|
| SMART Domains |
Protein: ENSMUSP00000090059
Gene: ENSMUSG00000034120
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
15 |
88 |
1.79e-25 |
SMART |
|
low complexity region
|
101 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106370
AA Change: V72A
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_16
|
48 |
203 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128784
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136914
|
| SMART Domains |
Protein: ENSMUSP00000120086
Gene: ENSMUSG00000034120
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
15 |
88 |
1.79e-25 |
SMART |
|
low complexity region
|
101 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190993
|
| SMART Domains |
Protein: ENSMUSP00000140016
Gene: ENSMUSG00000034120
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
15 |
88 |
1.79e-25 |
SMART |
|
low complexity region
|
101 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139954
|
| SMART Domains |
Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142495
|
| SMART Domains |
Protein: ENSMUSP00000117922
Gene: ENSMUSG00000056962
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
270 |
4.17e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143184
|
| SMART Domains |
Protein: ENSMUSP00000119131
Gene: ENSMUSG00000090266
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
1 |
82 |
1e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.4428 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
| 4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| 4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
| Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
| Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
| Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
| Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
Het |
|
| Other mutations in Mettl23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
stretch
|
UTSW |
11 |
116,739,865 (GRCm39) |
nonsense |
probably null |
|
|
R0437:Mettl23
|
UTSW |
11 |
116,740,120 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5564:Mettl23
|
UTSW |
11 |
116,739,865 (GRCm39) |
nonsense |
probably null |
|
|
R5573:Mettl23
|
UTSW |
11 |
116,734,437 (GRCm39) |
unclassified |
probably benign |
|
|
R5593:Mettl23
|
UTSW |
11 |
116,734,593 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6077:Mettl23
|
UTSW |
11 |
116,739,728 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6545:Mettl23
|
UTSW |
11 |
116,740,042 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7315:Mettl23
|
UTSW |
11 |
116,739,928 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7775:Mettl23
|
UTSW |
11 |
116,740,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7778:Mettl23
|
UTSW |
11 |
116,740,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7898:Mettl23
|
UTSW |
11 |
116,736,679 (GRCm39) |
unclassified |
probably benign |
|
|
R8308:Mettl23
|
UTSW |
11 |
116,739,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Mettl23
|
UTSW |
11 |
116,740,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Mettl23
|
UTSW |
11 |
116,744,865 (GRCm39) |
missense |
unknown |
|
|
R9211:Mettl23
|
UTSW |
11 |
116,734,469 (GRCm39) |
missense |
unknown |
|
|
X0060:Mettl23
|
UTSW |
11 |
116,734,466 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGTTTCAGAATCACCAGG -3'
(R):5'- AGCTAAAATTTCCAGACTTGCCAC -3'
Sequencing Primer
(F):5'- CTGGGTTCAATCTAGGTAAATATGCC -3'
(R):5'- TCAAACTTTGCCGAACCG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation